Incidental Mutation 'R1794:Anxa7'
ID 202071
Institutional Source Beutler Lab
Gene Symbol Anxa7
Ensembl Gene ENSMUSG00000021814
Gene Name annexin A7
Synonyms Anx7, synexin
MMRRC Submission 039824-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R1794 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 20505328-20530201 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20521535 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 54 (Y54H)
Ref Sequence ENSEMBL: ENSMUSP00000153130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065504] [ENSMUST00000100844] [ENSMUST00000224975] [ENSMUST00000225132]
AlphaFold Q07076
Predicted Effect unknown
Transcript: ENSMUST00000065504
AA Change: Y54H
SMART Domains Protein: ENSMUSP00000066035
Gene: ENSMUSG00000021814
AA Change: Y54H

DomainStartEndE-ValueType
low complexity region 3 21 N/A INTRINSIC
low complexity region 37 103 N/A INTRINSIC
low complexity region 111 129 N/A INTRINSIC
ANX 177 229 5.92e-26 SMART
ANX 249 301 3.12e-25 SMART
ANX 333 385 1.03e-11 SMART
ANX 408 460 2e-23 SMART
Predicted Effect unknown
Transcript: ENSMUST00000100844
AA Change: Y54H
SMART Domains Protein: ENSMUSP00000098405
Gene: ENSMUSG00000021814
AA Change: Y54H

DomainStartEndE-ValueType
low complexity region 3 21 N/A INTRINSIC
low complexity region 37 103 N/A INTRINSIC
low complexity region 111 129 N/A INTRINSIC
ANX 177 229 5.92e-26 SMART
ANX 249 301 3.12e-25 SMART
ANX 333 385 1.03e-11 SMART
ANX 408 460 2e-23 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223681
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223960
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224344
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224410
Predicted Effect unknown
Transcript: ENSMUST00000224975
AA Change: Y54H
Predicted Effect unknown
Transcript: ENSMUST00000225132
AA Change: Y54H
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225118
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.7%
  • 10x: 94.8%
  • 20x: 91.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Annexin VII is a member of the annexin family of calcium-dependent phospholipid binding proteins.The Annexin VII gene contains 14 exons and spans approximately 34 kb of DNA. An alternatively spliced cassette exon results in two mRNA transcripts of 2.0 and 2.4 kb which are predicted to generate two protein isoforms differing in their N-terminal domain. The alternative splicing event is tissue specific and the mRNA containing the cassette exon is prevalent in brain, heart and skeletal muscle. The transcripts also differ in their 3'-non coding regions by the use of two alternative poly(A) signals. Annexin VII encodes a protein with a molecular weight of approximately 51 kDa with a unique, highly hydrophobic N-terminal domain of 167 amino acids and a conserved C-terminal region of 299 amino acids. The latter domain is composed of alternating hydrophobic and hydrophilic segments. Structural analysis of the protein suggests that Annexin VII is a membrane binding protein with diverse properties, including voltage-sensitive calcium channel activity, ion selectivity and membrane fusion. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele are viable but exhibit altered Ca2+ signaling and/or homeostasis in cardiomyocytes and glia cells, and changes in erythrocyte shape, osmotic resistance, platelet number and aggregation velocity. Homozygotes for another null allele die at ~E10 with cerebral hemorrhage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef3 A G 14: 27,119,562 (GRCm39) T331A probably benign Het
Arhgef40 G T 14: 52,227,387 (GRCm39) C477F possibly damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp13a5 C A 16: 29,140,527 (GRCm39) R343L probably damaging Het
Brdt ACAGCAGCAGCAGCAGC ACAGCAGCAGCAGC 5: 107,507,719 (GRCm39) probably benign Het
Btbd2 G T 10: 80,479,747 (GRCm39) D426E probably damaging Het
Cabin1 A C 10: 75,561,579 (GRCm39) I974R possibly damaging Het
Cacna1i G A 15: 80,273,323 (GRCm39) V1670M probably damaging Het
Cc2d2a C A 5: 43,845,594 (GRCm39) Q288K probably damaging Het
Ccl20 T A 1: 83,095,550 (GRCm39) I37K possibly damaging Het
Cdcp1 A G 9: 123,019,159 (GRCm39) V40A probably benign Het
Cdcp1 T C 9: 123,044,896 (GRCm39) T27A probably benign Het
Cdh4 C T 2: 179,528,635 (GRCm39) T581I probably damaging Het
Cgn A G 3: 94,669,864 (GRCm39) probably null Het
Col7a1 G A 9: 108,794,996 (GRCm39) G1493D unknown Het
Creb3 A G 4: 43,563,302 (GRCm39) E133G probably benign Het
Dchs1 T C 7: 105,420,927 (GRCm39) T498A probably benign Het
Dis3l A C 9: 64,225,058 (GRCm39) V413G possibly damaging Het
Dnah6 T C 6: 73,001,941 (GRCm39) E3865G probably damaging Het
Fam219b A G 9: 57,446,564 (GRCm39) Y139C probably damaging Het
Fat3 A T 9: 15,908,432 (GRCm39) Y2523* probably null Het
Fat3 A T 9: 15,908,434 (GRCm39) Y2523N probably benign Het
Fmnl1 T C 11: 103,087,973 (GRCm39) S40P probably benign Het
Gm4792 T C 10: 94,134,352 (GRCm39) D6G unknown Het
Hhat G T 1: 192,376,214 (GRCm39) Y306* probably null Het
Hmcn1 A G 1: 150,474,036 (GRCm39) I4802T probably benign Het
Hmcn1 G A 1: 150,502,903 (GRCm39) T3908I probably damaging Het
Hsph1 A T 5: 149,554,238 (GRCm39) N79K probably damaging Het
Ikbke T A 1: 131,186,955 (GRCm39) Y579F probably damaging Het
Jak2 A G 19: 29,276,957 (GRCm39) D838G probably benign Het
Klhdc7b T C 15: 89,271,223 (GRCm39) S702P probably benign Het
Lingo3 C A 10: 80,671,432 (GRCm39) R166L probably benign Het
Lins1 T C 7: 66,361,657 (GRCm39) F436S probably damaging Het
Lman1 T C 18: 66,124,755 (GRCm39) D328G probably benign Het
Lox A G 18: 52,661,379 (GRCm39) C232R probably damaging Het
Lrrc59 T C 11: 94,529,421 (GRCm39) V165A probably benign Het
Map9 A G 3: 82,287,528 (GRCm39) D50G probably damaging Het
Marchf1 T A 8: 66,839,594 (GRCm39) Y126N possibly damaging Het
Mcf2l T C 8: 12,965,982 (GRCm39) F3L probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Nin G A 12: 70,090,569 (GRCm39) Q949* probably null Het
Nlgn3 A G X: 100,363,639 (GRCm39) H636R probably benign Het
Notch2 A G 3: 98,006,863 (GRCm39) D411G possibly damaging Het
Or4c52 A G 2: 89,845,364 (GRCm39) Y30C probably damaging Het
Or5b24 G C 19: 12,912,332 (GRCm39) A77P probably damaging Het
Pate7 T A 9: 35,688,418 (GRCm39) I56F probably benign Het
Plekha7 A G 7: 115,739,916 (GRCm39) V579A probably damaging Het
Prrc2c T C 1: 162,533,528 (GRCm39) probably benign Het
Rab7b T C 1: 131,624,806 (GRCm39) probably null Het
Reg3b G T 6: 78,349,197 (GRCm39) probably null Het
Rgs20 A G 1: 4,980,795 (GRCm39) Y177H probably damaging Het
Ripk3 G T 14: 56,022,786 (GRCm39) N379K probably benign Het
Rnf220 G T 4: 117,164,765 (GRCm39) Q7K probably benign Het
Ros1 T A 10: 52,000,199 (GRCm39) K1109* probably null Het
Slc22a7 T G 17: 46,744,079 (GRCm39) R460S probably damaging Het
Slc4a2 A G 5: 24,644,326 (GRCm39) M975V probably damaging Het
Slc4a3 A T 1: 75,533,952 (GRCm39) I1100F probably damaging Het
Smco1 A G 16: 32,092,950 (GRCm39) E207G probably benign Het
Snrnp200 A G 2: 127,058,656 (GRCm39) E369G probably benign Het
Spata31d1e T C 13: 59,890,434 (GRCm39) E44G probably benign Het
Tcf4 T A 18: 69,790,924 (GRCm39) M178K probably benign Het
Tex2 T C 11: 106,458,728 (GRCm39) probably benign Het
Tjp1 A T 7: 64,972,877 (GRCm39) I521N probably damaging Het
Tmem203 A G 2: 25,146,006 (GRCm39) T109A probably benign Het
Tmem50b T C 16: 91,374,917 (GRCm39) I126V probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Ush2a T C 1: 188,595,006 (GRCm39) F3813L probably benign Het
Vmn1r203 C T 13: 22,708,521 (GRCm39) R101W probably damaging Het
Vmn2r79 G A 7: 86,650,621 (GRCm39) V136I probably benign Het
Wdr38 A G 2: 38,890,741 (GRCm39) Y205C probably damaging Het
Zfp248 A G 6: 118,406,264 (GRCm39) F442L probably damaging Het
Znrf4 A G 17: 56,818,599 (GRCm39) I236T probably damaging Het
Other mutations in Anxa7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00983:Anxa7 APN 14 20,508,749 (GRCm39) missense possibly damaging 0.87
IGL01137:Anxa7 APN 14 20,506,648 (GRCm39) nonsense probably null
IGL01376:Anxa7 APN 14 20,510,524 (GRCm39) missense probably benign 0.00
IGL01651:Anxa7 APN 14 20,506,569 (GRCm39) missense probably damaging 1.00
IGL02830:Anxa7 APN 14 20,506,608 (GRCm39) missense possibly damaging 0.67
IGL03078:Anxa7 APN 14 20,506,624 (GRCm39) missense probably damaging 0.97
IGL03177:Anxa7 APN 14 20,506,654 (GRCm39) missense probably benign 0.41
FR4449:Anxa7 UTSW 14 20,519,479 (GRCm39) missense probably damaging 0.97
FR4548:Anxa7 UTSW 14 20,519,479 (GRCm39) missense probably damaging 0.97
FR4737:Anxa7 UTSW 14 20,519,479 (GRCm39) missense probably damaging 0.97
FR4976:Anxa7 UTSW 14 20,519,479 (GRCm39) missense probably damaging 0.97
LCD18:Anxa7 UTSW 14 20,519,479 (GRCm39) missense probably damaging 0.97
R0049:Anxa7 UTSW 14 20,512,678 (GRCm39) missense probably damaging 1.00
R0049:Anxa7 UTSW 14 20,512,678 (GRCm39) missense probably damaging 1.00
R0121:Anxa7 UTSW 14 20,510,227 (GRCm39) missense probably damaging 0.97
R0329:Anxa7 UTSW 14 20,519,566 (GRCm39) splice site probably null
R0330:Anxa7 UTSW 14 20,519,566 (GRCm39) splice site probably null
R1416:Anxa7 UTSW 14 20,512,775 (GRCm39) missense probably damaging 1.00
R1601:Anxa7 UTSW 14 20,514,683 (GRCm39) nonsense probably null
R1701:Anxa7 UTSW 14 20,510,229 (GRCm39) missense probably damaging 1.00
R1828:Anxa7 UTSW 14 20,512,732 (GRCm39) missense probably damaging 1.00
R4676:Anxa7 UTSW 14 20,517,983 (GRCm39) missense probably benign 0.00
R5354:Anxa7 UTSW 14 20,514,977 (GRCm39) missense possibly damaging 0.63
R6547:Anxa7 UTSW 14 20,519,461 (GRCm39) missense probably benign 0.13
R6985:Anxa7 UTSW 14 20,521,636 (GRCm39) missense unknown
R7226:Anxa7 UTSW 14 20,510,263 (GRCm39) missense probably damaging 0.97
R7267:Anxa7 UTSW 14 20,519,474 (GRCm39) missense probably benign 0.05
R7811:Anxa7 UTSW 14 20,510,254 (GRCm39) missense probably benign
R8550:Anxa7 UTSW 14 20,506,593 (GRCm39) missense probably damaging 1.00
R8877:Anxa7 UTSW 14 20,517,548 (GRCm39) missense probably benign 0.02
R8936:Anxa7 UTSW 14 20,521,495 (GRCm39) missense unknown
R9035:Anxa7 UTSW 14 20,510,460 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCACAATACAGGAAATAACGCTGAG -3'
(R):5'- TGGCAGAAATGATACATTGTGTGG -3'

Sequencing Primer
(F):5'- TACAGGAAATAACGCTGAGGGTAAG -3'
(R):5'- GAAGACTCTTTGTTCTTTTTAAGTGG -3'
Posted On 2014-06-23